[Neonatal screening for sickle cell anemia in metropolitan France. For the group for neonatal screening of sickle cell anemia of the French Association for Screening and Prevention of Infant Handicaps (AFDPHE)]

Abstract

An experimental neonatal screening program for sickle cell disease (SCD) was set up in continental France in 1990. The screening strategy was fine-tuned based on results of screening programs in the French West Indies and of pilot studies in several regions of continental France. Since early 1994, sickle cell disease screening is done in combination with screening for phenylketonuria, hypothyroidism, and congenital adrenal hyperplasia but is restricted to infants identified by maternity units as belonging to high-risk ethnic groups. Cost has proved acceptable, and rates of false-positive and false-negative tests have been very low. The management of infants with a positive screening test has been defined. All cases detected to date have been included in a prospective study. SCD is currently being extended to the entire country, an endeavor that will require considerable education efforts and careful surveillance.